Patent SG-11201906948U-A (SG)
Title: Human gene correction
Inventor: MITALIPOV SHOUKHRAT
IPC: C12N15/90
Filed: 2018-04-20
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 25 October 2018 (25.10.2018) WIP0 I PCT omit IIl °nolo mu loom °nom° oimIE (10) International Publication Number WO 2018/195418 Al (51) International Patent Classification: TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Declarations under Rule 4.17: — of inventorship (Rule 4.17(iv)) 20 April 2018 (20.04.2018) Published: with international search report (Art. 21(3)) (25) Filing Language: English with sequence listing part of description (Rule 5.2(a)) (26) Publication Language: English (30) Priority Data: 62/487,989 20 April 2017 (20.04.2017) US (71) Applicant: OREGON HEALTH & SCIENCE UNIVERSITY [US/US]; 0690 SW Bancroft Street (Mail Code L106TT), Portland, OR 97239 (US). (72) Inventors: MITALIPOV, Shoukhrat, M.; 3303 SW Bond Ave, Center for Embryonic Cell and Gene Therapy, Port- land, OR 97239 (US). MARTI GUTIERREZ, Nuria; 3303 SW Bond Ave, Center for Embryonic Cell and Gene Therapy, Portland, OR 97239 (US). (74) Agent: MITCHELL, Lauren, E.; Klarquist Sparkman LLP, One World Trade Center, Suite 1600, 121 SW Salmon Street, Portland, OR 97204 (US). (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, A01K 67/027(2006.01) C12N 15/90 (2006.01) (21) International Application Number: PCT/US2018/028560 (22) International Filing Date: (54) Title: HUMAN GENE CORRECTION 1-1 (57) : Methods are disclosed for correcting a mutant allele of a gene of interest in a primate cell. The methods include a) GO introducing a non-naturally occurring targeted nuclease and site-specific nucleotide-binding guide that act together to introduce dou- ble-stranded breaks in the mutant allele into the primate cell, wherein: i) the primate cell is undergoing mitotic cell division; ii) the 71' in primate cell comprises a genome that is heterozygous for the mutant allele, such that the genome comprises one copy of the mutant allele 01 and one copy of a wild-type allele; iii) single-stranded oligonucleotides homologous to the wild-type allele are not introduced into the 1-1 primate cell. The methods also include b) allowing the primate cell to activate homology-directed repair of the double-stranded DNA breaks in the mutant allele, thereby correcting the mutant allele using the normal wild-type allele as a repair template and producing a 1-1 © primate cell that is homozygous for the wild-type allele. The primate cell can be a one-cell embryo and/or a human cell.